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Author/Creator Otto, E

2. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Issue 4 (24th September 2009)

Authors:
Harville, H M; Held, S; Diaz-Font, A; Davis, E E; Diplas, B H; Lewis, R A; Borochowitz, Z U; Zhou, W; Chaki, M; MacDonald, J; Kayserili, H; Beales, P L; Katsanis, N; Otto, E; Hildebrandt, F
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 4(2010)
Page Start:
262
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy. Issue 1 (December 2015)

Authors:
Perrault, I; Halbritter, J; Porath, J; Gerard, X; Braun, D; Gee, H; Fathy, H; Saunier, S; Cormier-Daire, V; Thomas, S; Attié-Bitach, T; Boddaert, N; Taschner, M; Schueler, M; Lorentzen, E; Lifton, R; Otto, E; Bastin, P; Kaplan, J; Hildebrandt, F
Journal:
Cilia
Issue:
Volume 4:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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